Incidental Mutation 'R8951:Fam110a'
ID 681620
Institutional Source Beutler Lab
Gene Symbol Fam110a
Ensembl Gene ENSMUSG00000027459
Gene Name family with sequence similarity 110, member A
Synonyms 1700008J10Rik, 5430432M24Rik
MMRRC Submission 068788-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # R8951 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 151811318-151822096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 151812461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 103 (D103G)
Ref Sequence ENSEMBL: ENSMUSP00000105491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062047] [ENSMUST00000109863] [ENSMUST00000109864] [ENSMUST00000109865]
AlphaFold Q8R184
Predicted Effect probably damaging
Transcript: ENSMUST00000062047
AA Change: D103G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000053266
Gene: ENSMUSG00000027459
AA Change: D103G

DomainStartEndE-ValueType
Pfam:FAM110_N 4 103 1.8e-39 PFAM
low complexity region 137 155 N/A INTRINSIC
Pfam:FAM110_C 182 288 4.8e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109863
AA Change: D103G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105489
Gene: ENSMUSG00000027459
AA Change: D103G

DomainStartEndE-ValueType
Pfam:FAM110_N 2 104 3.9e-41 PFAM
low complexity region 137 155 N/A INTRINSIC
Pfam:FAM110_C 180 289 1.7e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109864
AA Change: D103G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105490
Gene: ENSMUSG00000027459
AA Change: D103G

DomainStartEndE-ValueType
Pfam:FAM110_N 2 104 3.9e-41 PFAM
low complexity region 137 155 N/A INTRINSIC
Pfam:FAM110_C 180 289 1.7e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109865
AA Change: D103G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105491
Gene: ENSMUSG00000027459
AA Change: D103G

DomainStartEndE-ValueType
Pfam:FAM110_N 2 104 3.9e-41 PFAM
low complexity region 137 155 N/A INTRINSIC
Pfam:FAM110_C 180 289 1.7e-42 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 T C 11: 102,665,193 (GRCm39) probably null Het
Adcy6 A T 15: 98,502,140 (GRCm39) V158E possibly damaging Het
Adgrg3 T C 8: 95,761,362 (GRCm39) probably benign Het
Arsb T C 13: 93,944,124 (GRCm39) S272P probably damaging Het
Asb10 A C 5: 24,742,952 (GRCm39) C260W probably damaging Het
Atp13a1 A G 8: 70,246,484 (GRCm39) D158G probably benign Het
Bcl6 T C 16: 23,793,704 (GRCm39) E81G probably damaging Het
C7 A T 15: 5,032,231 (GRCm39) V660E probably benign Het
Cacna1c T C 6: 118,590,300 (GRCm39) D1401G probably damaging Het
Ccp110 A G 7: 118,321,015 (GRCm39) I223M possibly damaging Het
Cilp A G 9: 65,180,220 (GRCm39) E187G probably benign Het
Cmc2 T C 8: 117,637,904 (GRCm39) N15S probably damaging Het
Cnnm3 T A 1: 36,558,019 (GRCm39) probably benign Het
Col27a1 T G 4: 63,191,311 (GRCm39) M828R possibly damaging Het
Cpm C T 10: 117,511,938 (GRCm39) P294L probably damaging Het
Cpt1a G C 19: 3,412,211 (GRCm39) A228P probably benign Het
Ctbp1 A G 5: 33,416,679 (GRCm39) V43A probably damaging Het
Cylc2 A T 4: 51,229,469 (GRCm39) E270D unknown Het
Cyp46a1 A C 12: 108,312,348 (GRCm39) R119S possibly damaging Het
Dctn3 A T 4: 41,719,845 (GRCm39) I87N probably damaging Het
Dhdds C T 4: 133,719,857 (GRCm39) V25I possibly damaging Het
Entpd1 A C 19: 40,727,319 (GRCm39) N489T probably damaging Het
Foxo6 T A 4: 120,125,133 (GRCm39) Q554L unknown Het
Gbp5 T A 3: 142,206,481 (GRCm39) M55K probably damaging Het
Gm20730 T C 6: 43,058,638 (GRCm39) Y58C possibly damaging Het
Grip1 T A 10: 119,874,509 (GRCm39) S679T possibly damaging Het
Gtdc1 A C 2: 44,679,030 (GRCm39) probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igha T A 12: 113,222,684 (GRCm39) N246Y Het
Ighg2b T A 12: 113,270,926 (GRCm39) T104S probably benign Het
Ighmbp2 C T 19: 3,318,726 (GRCm39) W450* probably null Het
Ipo11 T C 13: 106,978,690 (GRCm39) E839G possibly damaging Het
Iqce T C 5: 140,675,578 (GRCm39) D207G probably damaging Het
Irgm2 T C 11: 58,110,408 (GRCm39) V45A possibly damaging Het
Itga1 C T 13: 115,107,027 (GRCm39) W1021* probably null Het
Itga3 T C 11: 94,944,911 (GRCm39) Y799C probably damaging Het
Klf1 T C 8: 85,629,912 (GRCm39) S246P possibly damaging Het
Kras A T 6: 145,166,338 (GRCm39) M188K probably benign Het
Lacc1 C T 14: 77,272,613 (GRCm39) C61Y probably benign Het
Lect2 T A 13: 56,690,822 (GRCm39) probably benign Het
Leng9 G A 7: 4,152,782 (GRCm39) probably benign Het
Lhx9 A G 1: 138,769,704 (GRCm39) C6R probably damaging Het
Matn3 T A 12: 9,002,172 (GRCm39) I128K probably damaging Het
Ndst1 T C 18: 60,830,196 (GRCm39) E638G probably benign Het
Nell2 A T 15: 95,139,424 (GRCm39) C603S probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Oas1h T G 5: 121,000,657 (GRCm39) F89C probably damaging Het
Or4d10c A T 19: 12,066,056 (GRCm39) Y33* probably null Het
Or52l1 A G 7: 104,829,638 (GRCm39) V294A probably damaging Het
Or5b101 T A 19: 13,004,827 (GRCm39) S289C Het
Or5d45 C T 2: 88,153,975 (GRCm39) G25S probably damaging Het
P2ry2 G A 7: 100,647,228 (GRCm39) T359I probably damaging Het
Pbxip1 T A 3: 89,352,864 (GRCm39) V170E probably benign Het
Pcdhb20 T A 18: 37,639,146 (GRCm39) N557K probably damaging Het
Pdilt A G 7: 119,099,611 (GRCm39) V219A possibly damaging Het
Plec G T 15: 76,067,310 (GRCm39) S1149* probably null Het
Pnkp C T 7: 44,507,617 (GRCm39) T61I possibly damaging Het
Polr1f G T 12: 33,487,867 (GRCm39) E261* probably null Het
Prss56 T A 1: 87,115,749 (GRCm39) V541D probably damaging Het
Rab40c A G 17: 26,138,407 (GRCm39) V25A probably damaging Het
Rgs8 A T 1: 153,546,567 (GRCm39) H22L probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Slc1a2 T C 2: 102,586,353 (GRCm39) V319A probably damaging Het
Sp140l2 G A 1: 85,224,671 (GRCm39) S288L possibly damaging Het
Spata18 A T 5: 73,828,572 (GRCm39) I378F probably damaging Het
Speer1i T A 5: 11,092,799 (GRCm39) Y79* probably null Het
Stag1 T C 9: 100,762,854 (GRCm39) V485A probably damaging Het
Tas2r104 T A 6: 131,662,569 (GRCm39) I47F probably damaging Het
Thumpd1 A T 7: 119,317,471 (GRCm39) H143Q possibly damaging Het
Tmem231 T C 8: 112,640,697 (GRCm39) Q272R probably damaging Het
Tnfaip2 A G 12: 111,412,310 (GRCm39) D237G probably benign Het
Tox3 T C 8: 91,074,543 (GRCm39) D12G probably benign Het
Vmn1r1 A G 1: 181,985,309 (GRCm39) S119P probably damaging Het
Xrn1 A G 9: 95,870,999 (GRCm39) E608G probably benign Het
Zfp395 T C 14: 65,629,528 (GRCm39) C281R probably damaging Het
Other mutations in Fam110a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0316:Fam110a UTSW 2 151,812,006 (GRCm39) missense probably benign 0.02
R0321:Fam110a UTSW 2 151,812,587 (GRCm39) missense probably benign 0.01
R0546:Fam110a UTSW 2 151,812,732 (GRCm39) missense probably benign
R0569:Fam110a UTSW 2 151,812,404 (GRCm39) missense probably damaging 0.97
R1761:Fam110a UTSW 2 151,812,125 (GRCm39) missense probably benign 0.13
R1842:Fam110a UTSW 2 151,811,954 (GRCm39) missense probably damaging 0.99
R2173:Fam110a UTSW 2 151,812,429 (GRCm39) missense probably damaging 1.00
R5447:Fam110a UTSW 2 151,812,629 (GRCm39) missense probably damaging 1.00
R5825:Fam110a UTSW 2 151,811,961 (GRCm39) missense probably damaging 1.00
R7033:Fam110a UTSW 2 151,812,131 (GRCm39) missense probably damaging 1.00
R7128:Fam110a UTSW 2 151,812,642 (GRCm39) missense probably damaging 1.00
R8364:Fam110a UTSW 2 151,812,338 (GRCm39) missense probably damaging 1.00
R8790:Fam110a UTSW 2 151,812,338 (GRCm39) missense probably damaging 1.00
R9390:Fam110a UTSW 2 151,812,116 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GGAAAAGCGCTCACTCAAGTC -3'
(R):5'- CTGGAGGCTGATAAGGCTAAGTAC -3'

Sequencing Primer
(F):5'- ACTTGGACCGCTGCAGG -3'
(R):5'- CTAAGTACGTCAAGAGCCTGCG -3'
Posted On 2021-08-31